A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727672



Internal ID10311308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:59519298..59519427hg38UCSC Ensembl
Outerchr4:60385016..60385145hg19UCSC Ensembl
Cytoband4q13.1
Allele length
AssemblyAllele length
hg38130
hg19130
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6860184, essv6817545, essv6956150
SamplesSSM088, SSM026, SSM078
Known Genes
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2727672
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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